Master A – genetics testing is complete.

I have been very quiet on my blog, due to lots of things, but fingers crossed I am back! I have a bit to catch up on too. So this post is all about Master A and an update to his genetics testing journey.

As some of you know. Master A has developmental delays. He is showing some autistic, I am not too sure what word to use here, traits. He is not showing enough of them to get a diagnosis. He is a sociable little boy, that’s what I think is confusing the paediatrician. He doesn’t know how to play with other children very well but that’s OK. He is a happy boy, mostly. Sure he has meltdowns but that is part of the package! He has speech delay so understandably that is quite frustrating for him. He likes his routine but we can’t really have a routine so he has to be a bit more flexible than what he likes.

The most important thing is, the three year journey waiting for genetics testing is over. Well it is for the next three years. So far, Master A has been tested for Neurofibromatosis, Legius Syndrome and Noonan Syndrome. Everything has come back negative. I am rather happy about this! When I say happy, I am relieved that he doesn’t have any of the main conditions that can cause cafe au lait marks. He currently has nine of these marks.

So that does mean we don’t have an explanation as to why he does have these marks. I have never been told that they are normal but as the genetics doctor has said, he doesn’t have any of the three main conditions that cause them so that is good! There is going to be a review in three years time, so that’s it! No more waiting for tests. Master A does have another autism assessment coming up. I am not expecting him to get diagnosed as nothing major has changed.

So I am one happy Mummy! It is so nice to be able to just enjoy time with Master A and his sister without the constant worry that something could be wrong with him, other than being on the spectrum and delayed (which isn’t even worth worrying about).



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